Additional Diagnostic Yield through the Analysis of Short Tandem Repeats Based on Exome Sequencing Data.

Short tandem repeats (STRs) are associated with 70 genetic diseases. Because of the short read length of exome sequencing (ES), STR analysis is not routinely analyzed in clinical ES. So far, there has been limited systematic evaluation using large-scale clinical ES data to assess the diagnostic yield of pathogenic STR expansion.

Effects of Pregelatinization on the Physicochemical Properties of Corn Grits and the Quality of Cooked Waxy Corn Wrapped in Plant Leaves.

In this study, the effects of pregelatinization on the physicochemical properties of corn grits and the quality of cooked waxy corn wrapped in plant leaves were investigated. This investigation was conducted to address the issues of partial gelatinization and poor texture in corn grits when applied to food processing such as cooked waxy corn wrapped in plant leaves. After the corn grits were soaked at 55 °C, they were steamed for 30 min and dried at 45 °C (steam temperature maintained at 100 °C), reaching a gelatinization degree of 48.

Comparative analysis of extraperitoneal versus transabdominal cesarean sections: a meta-analysis of randomized controlled trials and systematic review.

Objective: The objective of this study is to systematically evaluate the efficacy of Extraperitoneal Cesarean Section (ECS) compared to Transabdominal Cesarean Section (TCS) in pregnant women, and to assess the differences in treatment outcomes between the two surgical approaches.

Approach And Techniques: We conducted an extensive literature search, pulling up the most recent findings from reputable sources like the Cochrane Library, PubMed, EMBASE, Google Scholar, and Web of Science, all the way up to October 2024. Our meta-analysis comprised seven randomized controlled trials.

Recognition of characteristic aroma-active components in Qingke (highand barley) through flavoromics analysis.

Qingke (highland barley) is a unique Tibetan Plateau crop, vital for local diets and traditional products. However, flavor differences among its varieties remain unclear. This work examined 4 representative Qingke varieties to investigate their flavor profiles and key aroma contributors.

Emerging roles of ribosome translation in stem cells and stem cell therapy - a review.

Stem cells differ from other somatic cells in that they possess self-renewal and differentiation potential, which endows them with unique characteristics, and have great therapeutic potential. Studies have shown that the self-renewal and differentiation potential of stem cells is regulated by ribosomes during protein synthesis. In this review, we discuss the translation regulation mechanisms and ribosome biogenesis in stem cells.

Assessment of left ventricular systolic function using pressure-strain loops in offspring of women with gestational diabetes mellitus: a prospective cohort study.

Background: Gestational diabetes mellitus (GDM) increases the risk of cardiovascular abnormalities in offspring. The objective of this study is to assess changes in left ventricular myocardial work using the left ventricular pressure-strain loop (LVPSL) method in neonates born to mothers with GDM. The aim of the research is to examine early impairments in neonatal left ventricular systolic function and to investigate whether these impairments persist over time.

Oxidized-LDL aggravates renal injury via tubular cuproptosis.

Objective: The imbalance of copper homeostasis is closely related to development of kidney injury. We aimed to clarify the mechanism of oxidation of low-density lipoprotein (ox-LDL) aggravated renal injury via tubular copper overload and cuproptosis in lipid-related renal injury.

Methods: 313 patients with kidney disease (KD) confirmed by renal biopsy and 19 healthy participants were enrolled in this study.

Homocysteine induces endometrial ferroptosis via MAPK pathway in recurrent pregnancy loss.

Background: Recurrent pregnancy loss (RPL) with complex etiology and elevated homocysteinemia (HCY) has been recognized one of the risk factors, however the mechanism of HCY participation in RPL are not fully elucidated.

Methods: Samples from RPL_HHCY, RPL_NHCY and controls were used to metabolomics and proteomic analysis. Cell counting kit-8 assay, EdU assay kit, wound healing assay and induced decidualization were performed to observe the HCY induced dysfunction of human endometrial stromal cells (hESCs).

Metabolomics profiling identifies diagnostic metabolic signatures for pregnancy loss: a cross-sectional study from northwestern China.

Objective: To identify potential diagnostic metabolic biomarkers for pregnancy loss (PL) by performing untargeted metabolomics analysis.

Methods: The present study performed untargeted metabolomics analysis on plasma samples from PL patients (n=70) and control subjects (n=122) using liquid chromatography‒mass spectrometry (LC‒MS). Metabolic profiles were evaluated using orthogonal partial least squares discriminant analysis (OPLS-DA), and pathway enrichment analysis was conducted via the KEGG database.

Zwitterionic-enhanced hyperbranched polysiloxane membrane with advanced anti-crude oil fouling for high-efficient oil-in-water emulsion separation.

Membrane fouling, attributed to the adhesion of oil droplets, presents a significant challenge to membrane separation technology. The hydrophilic surface modification of polymer membranes has been proven as an effective antifouling strategy. Here, a novel zwitterionic hyperbranched polysiloxane modificated membrane (ZHBPSi@PDA@M) was synthesized through oxidative self-polymerization to form the polydopamine (PDA) adhesion layer, Michael addition, and ring-opening reaction.

Efficacy and cost-effectiveness analysis of 10-day versus 14-day eradication of infection with vonoprazan amoxicillin: a prospective, multicenter, randomized controlled trial.

Objectives: To evaluate the efficacy and cost-effectiveness of 10-day vonoprazan-amoxicillin (VA) dual therapy compared to 14-day VA therapy.

Methods: A non-inferiority trial was carried out at 10 clinical centers to recruit patients with H. pylori infection.

Early warning on the potential harmful algal bloom species in Beibu Gulf of South China Sea under the background of climate change and human activity.

Human activity and global climate change increasingly affect marine environments, leading to increases in harmful algal blooms (HABs) caused by phytoplankton. These blooms pose significant threats to public health, tourism, fisheries, and ecosystems. As an important fishing ground and tourist destination, the Beibu Gulf faces growing environmental pressure.

Mechanisms Underlying Phase Transition and Regulation of Tantalum Powder Properties During Magnesium Thermal Reduction of TaO in a Molten Salt Medium.

Magnesium reduction of TaO (tantalum pentoxide) is a metallurgical process widely used to extract metallic tantalum powder from its oxide form using magnesium as a reducing agent in a molten salt medium. This study explores the mechanisms and patterns of phase transformation during the magnesium reduction of TaO in a molten salt medium, focusing on the influence of temperature and time on the physical and chemical properties of the resulting tantalum powder. The results reveal that under various reaction conditions in a molten salt medium, the magnesium reduction of TaO follows four distinct pathways: TaO → Ta, TaO → MgTaO → Ta, TaO → MgTaO → MgTaO → Ta, and TaO → MgTaO → Ta.

Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights.

Background: Familial chylomicronemia syndrome (FCS) comprises a group of ultrarare disorders caused by biallelic variants in LPL or, less frequently, by GPIHBP1, APOC2, APOA5, or LMF1.

Objectives: To evaluate the phenotypes and management of eight non-lipoprotein lipase (LPL)-FCS patients.

Methods: Seven pediatric and one adult patients with non-LPL-FCS were enrolled.

Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.

Importance: Glycogen storage disease type Ib (GSDIb) is a rare metabolic disorder characterized by impaired glucose-6-phosphate transporter function with limited descriptions.

Objective: To describe the genetic and clinical features of Chinese patients with GSDIb.

Design, Setting, And Participants: This retrospective cohort study retrieved the medical records of 113 Chinese patients with GSDIb treated at a single institution in Shanghai from November 1, 2000, to June 30, 2024.

Biomimetic construction of multi-enzyme reactor through artificial antibody-antigen-directed immobilization for cascade catalytic conversion of cellulose to gluconic acid.

To achieve the biotransformation of cellulose into gluconic acid, a multi-enzyme reactor comprising cellulase, glucose oxidase, and catalase was constructed through artificial antibody-antigen-directed immobilization. Catechol was used as a template to prepare artificial antibodies, which were then used to modify the enzymes through a Schiff base reaction to form artificial antigens. The artificial antibody and antigen were subsequently assembled via affinity recognition to immobilize the enzymes.

Analysis of dynamic flavor changes of volatile and non-volatile fractions analysis of black qingke (Hordeum vulgare L. var. nudum Hook. f.) during steaming process.

Qingke (Hordeum vulgare L. var. nudum Hook.

Correlation of dyslipidemia characterized by abnormal cholesterol in first trimester with early pregnancy loss: a retrospective study.

Purpose: Dyslipidemia has been linked to adverse pregnancy outcomes in observational studies. This study aimed to explore how variations in lipid levels during the first trimester might influence early pregnancy loss (EPL).

Methods: Blood samples from pregnant women were analyzed to examine the relationship between EPL and lipid metabolism using logistic regression and restricted cubic splines (RCS).

The Impact of Growth Hormone Treatment on COVID-19 Susceptibility and Severity in Children with Short Stature: A Survey Study with Mendelian Randomization Analysis.

Introduction: Growth hormone (GH) is crucial for immune system development and regulation, potentially benefiting COVID-19 outcomes. However, there are limited studies on the role of GH treatment in COVID-19 in children with short stature.

Methods: We conducted a survey study to evaluate the association between GH treatment and COVID-19 risk in short stature children aged 7 to 18 years.

Metabolism-related proteins as biomarkers for predicting prognosis in polycystic ovary syndrome.

Objective: The study aimed to explore the role of metabolism-related proteins and their correlation with clinical data in predicting the prognosis of polycystic ovary syndrome (PCOS).

Methods: This research involves a secondary analysis of proteomic data derived from endometrial samples collected from our study group, which includes 33 PCOS patients and 7 control subjects. A comprehensive identification and analysis of 4425 proteins were conducted to screened differentially expressed proteins (DEPs).

Mineralizing Biofilm towards Sustainable Conversion of Plastic Wastes to Hydrogen.

The integration of inorganic materials with biological machinery to convert plastics into fuels offers a promising strategy to alleviate environmental pollution and energy crisis. Herein, we develop a type of hybrid living material via biomineralization of CdS onto Shewanella oneidensis-based biofilm, which is capable of sustainable hydrogen production from poly(lactic acid) (PLA) wastes under daylight. We reveal that the formed biofilm microstructure provides an independent anaerobic microenvironment that simultaneously supports cellular viability, maintains hydrogenase activity, and preserves the functional stability of CdS, giving rise to the efficient plastic-to-hydrogen conversion efficiency as high as 3751 μmol H g-1 PLA.

Observation of polarity changes in Sjogren's syndrome mice using a targeting lysosomes and ratiometric fluorescent probe.

Utilizing non-invasive, real-time dynamic imaging and high-resolution detection tools to track polarity changes in Sjögren's syndrome (SS) contributes to a better understanding of the disease progression. Herein, a ratiometric polarity-sensitive fluorescent probe (DIM) was designed and synthesized, DIM consisted of dicyanoisophorone as the fluorophore and morpholine moiety as lysosome targeting. DIM showed a ratiometric response to polarity and high selectivity (unaffected by viscosity, pH, ROS, RNS, etc.

Mapping the main harmful algal species in the East China Sea (Yangtze River estuary) and their possible response to the main ecological status and global climate change via a global vision.

The Yangtze River Estuary (YRE) is one of the areas in China most severely affected by harmful algal blooms (HABs). This study explored the distributive patterns of HABs in the YRE and how they are influenced by the El Niño-Southern Oscillation (ENSO) and other environmental factors. Quantitative real-time PCR (qPCR) was employed to detect and quantify the four predominant HAB species in the YRE, Karenia mikimotoi, Margalefidinium polykrikoides, Prorocentrum donghaiense, and Heterosigma akashiwo.